Is RASA1 p.Arg1010Ter (c.3028C>T) pathogenic?

RASA1 p.Arg1010Ter (c.3028C>T) is classified Pathogenic in RASA1 (ClinVar, Multiple submitters, 4 submitters; last evaluated 2026-01-29). Absent from gnomAD v4.1; Associated with hereditary hemorrhagic telangiectasia.

What condition is associated with RASA1 p.Arg1010Ter (c.3028C>T)?

RASA1 p.Arg1010Ter (c.3028C>T) is associated with hereditary hemorrhagic telangiectasia, capillary malformation-arteriovenous malformation syndrome (ClinVar).

How common is RASA1 p.Arg1010Ter (c.3028C>T) in the general population?

RASA1 p.Arg1010Ter (c.3028C>T) is absent from gnomAD v4.1 (gnomAD).

How is Hereditary hemorrhagic telangiectasia inherited?

Typically Autosomal dominant (Orphanet). A genetic counselor can assess individual risk for a family.

RASA1 p.Arg1010Ter

c.3028C>T · rs1762317272 · VCV949975

Pathogenic Multiple submitters

Classification

Pathogenic

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 4 submitters

Consequence

nonsense (stop-gain)

predicted LoF

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

hereditary hemorrhagic telangiectasia

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	nonsense (stop-gain)	predicted loss-of-function; NMD-escape possible for C-terminal truncations
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP 0.37	GERP -1.7, phastCons 0.98
Overall
CADD	37.0	PHRED · no single calibrated threshold — expert panels disagree

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: RASA1
Protein: p.Arg1010Ter
Coding: c.3028C>T
MANE Select: NM_001239 · reported on NM_002890
dbSNP: rs1762317272
Type: single nucleotide variant
Location: chr5:87389495 (GRCh38)

Full RASA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

hereditary hemorrhagic telangiectasia — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: capillary malformation-arteriovenous malformation syndrome

For Hereditary hemorrhagic telangiectasia (Orphanet):

Inheritance: Autosomal dominant
Onset: All ages
Prevalence: 1-5 / 10 000 (Europe)

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/rasa1-p-arg1010ter (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown